TABLE 1.
Demographics and baseline clinical features
| Subject 1a | Subject 2b | Subject 3b,c | Subject 4 | |
|---|---|---|---|---|
| Current age (years) | 3.8 | 41.3 | 34 | 16 |
| Gender | Female | Female | Male | Female |
| Weight kg (SDS) | 11.5 (−2.2) | 56.5 (0) | 61 (0) | 34.5 (−3) |
| Height cm (SDS) | 83.8 (−3.9) | 140 (−3.8) | 140.5 (−4.4) | 126 (−5.7) |
| Head circumference cm (SDS) | 45.5 (−2.2) | 52.4 (−2.2) | 55.5 (−0.7) | 55 |
| Intellectual disability |
+ Mild |
+ Mild |
+ Severe |
+ Mild‐to‐moderate |
| Autism spectrum disorder | − | − | + | + |
| Heart disease |
+ Tetralogy of Fallot |
+ Aortic stenosis, arrhythmia |
− |
+ Aortic stenosis |
| Life‐threating complications | Pericarditis | − | − | 3‐min cardiac arrest |
| Hearing loss | − | + | N.A. | + |
| Eye |
+ Ectopia lentis |
− | − |
+ Myopia, astigmatism, cataract |
| Lung | − |
+ Restrictive pulmonary disease |
N.A. |
+ Restrictive pulmonary disease |
| Gastrointestinal system | − |
+ Recurrent abdominal pain |
+ Hyperamylasemia |
+ Duodenal and pyloric stenosis |
| Puberty/reproductive system | − |
+ Secondary amenorrhea |
− | N.A. |
| Recurrent infections | − | + | − |
+ Pneumonia |
| Surgery |
+ Tetralogy of Fallot correction |
+ Correction of aortic valve disease, endometrial curettage for menorrhagia |
+ Arthroscopy left elbow with secondary ankylosis |
+ Cardiac surgeries and pyloric/duodenal stenosis |
| Others | − | Recurrent abdominal pain, persistent neutrophilic leukocytosis, polycythemia, anxiety | − | Hepatomegaly, anxiety |
| Systolic blood pressure range mmHg | 92–75 | 130–100 | 110–85 | 110 |
| Diastolic blood pressure range mmHg | 50–70 | 86–76 | 72–58 | 64 |
| Drugs | Furosemide, Esomeprazol, aspirin | Aldactone, furosemide, omeprazole, aspirin | − | Aldactone, Esomeprazol |